Related Experiment Video
Updated: May 18, 2026
12:32
Chromosome Screening of Human Preimplantation Embryos by Using Spent Culture Medium: Sample Collection and Chromosomal Ploidy Analysis
Published on: September 7, 2021
Women's experiences receiving abnormal prenatal chromosomal microarray testing results
Barbara A Bernhardt1, Danielle Soucier, Karen Hanson
1Department of Medicine, University of Pennsylvania, Philadelphia, PA, USA. Barbara.bernhardt@uphs.upenn.edu
Summary
Women receiving abnormal prenatal microarray results experienced uncertainty and a need for support. Enhanced counseling and provider education are crucial as this testing becomes more common.
Area of Science:
- Genetics
- Reproductive Health
- Medical Diagnostics
Background:
- Genomic microarrays detect copy-number variants beyond conventional cytogenetics.
- Prenatal microarray testing is increasingly adopted, but clinical implications of findings are often unknown.
Purpose of the Study:
- To explore women's experiences receiving abnormal prenatal microarray results in a research setting.
- To understand the psychosocial impact of uncertain genetic findings during pregnancy.
Main Methods:
- Qualitative pilot study involving 23 women.
- Telephone interviews conducted with participants from a multicenter prospective study.
Main Results:
- Key experiences included: perceived "offer too good to pass up," feeling "blindsided" by results, experiencing uncertainty and unquantifiable risks, a strong need for support, and acquiring "toxic knowledge."
Conclusions:
- Increasing use of prenatal microarray testing will lead to more uncertain findings.
- There is a critical need for enhanced pre- and post-test counseling.
- Improved provider education and resources are essential to support women undergoing this testing.
Related Concept Videos
01:17Karyotyping
Overview
01:17Karyotyping
Overview
02:57Meiosis vs. Mitosis
Cell division is necessary for growth and reproduction in organisms. Mitosis aids cell growth and development by dividing somatic cells. In contrast, meiosis causes the division of germ cells and plays an essential role in sexual reproduction. Due to their unique functional requirements, mitosis and meiosis differ from each other in multiple aspects.
Before the start of mitosis and meiosis I, the cell synthesizes DNA, resulting in two homologous copies of each chromosome. DNA synthesis is...
Before the start of mitosis and meiosis I, the cell synthesizes DNA, resulting in two homologous copies of each chromosome. DNA synthesis is...
01:21Nondisjunction
Nondisjunction is the failure of homologous chromosomes or sister chromatids to separate correctly and move to the opposite poles of the cells. This produces daughter cells with abnormal chromosome numbers. Nondisjunction is common during anaphase I or anaphase II of meiosis. Mutations in synaptonemal complex proteins that attach homologous chromosomes increase the chances of nondisjunction in anaphase I of meiosis I. In contrast, mutations in topoisomerases and condensins that hold sister...
01:29Nondisjunction
During meiosis, chromosomes occasionally separate improperly. This occurs due to failure of homologous chromosome separation during meiosis I or failed sister chromatid separation during meiosis II. In some species, notably plants, nondisjunction can result in an organism with an entire additional set of chromosomes, which is called polyploidy. In humans, nondisjunction can occur during male or female gametogenesis and the resulting gametes possess one too many or one too few chromosomes.
01:29Nondisjunction
During meiosis, chromosomes occasionally separate improperly. This occurs due to failure of homologous chromosome separation during meiosis I or failed sister chromatid separation during meiosis II. In some species, notably plants, nondisjunction can result in an organism with an entire additional set of chromosomes, which is called polyploidy. In humans, nondisjunction can occur during male or female gametogenesis and the resulting gametes possess one too many or one too few chromosomes.